In Japan, there are two medical expense subsidy systems, “specific chronic pediatric disease system” and “designated intractable disease system”, for some rare diseases called “Nanbyo”. With these medical subsidies, many medical examinations and researches have been conducted on patients with Nanbyo diseases, and various databases have been constructed to summarize those results. However, there has been no systematic investigation of the correspondence between Nanbyo diseases and diseases in international rare genetic disease databases so far.
This makes it difficult to share biomedical data on Nanbyo diseases with the rest of the world. To address this problem, we have developed a Nanbyo Disease Ontology (NANDO) with over 2700 entities which represent individual Nanbyo diseases in the two medical expense subsidy systems https://rdfportal.org/dataset/nando. Furthermore, using this first ontology of Nanbyo diseases in Japan, we constructed NanbyoData http://nanbyodata.jp, which integrates biomedical data such as variants, genetic tests, bio-resources, and patient numbers on Nanbyo diseases in Japan.
In this hackathon, we will try to map NANDO entities to Orphanet Rare Disease Ontology (ORDO) entities and Monarch Disease Ontology entities by using a semi-automatic approach. We believe that this will enhance interoperability of biomedical resources related to rare diseases between Europe, US, and Japan.
Toyofumi Fujiwara, David Lagorce